Detalhe da pesquisa
1.
De novo ARF3 variants cause neurodevelopmental disorder with brain abnormality.
Hum Mol Genet
; 31(1): 69-81, 2021 12 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-34346499
2.
Genetic and clinical landscape of childhood cerebellar hypoplasia and atrophy.
Genet Med
; 24(12): 2453-2463, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-36305856
3.
Evaluation of clinical findings and neurofibromatosis type 1 bright objects on brain magnetic resonance images of 60 Turkish patients with NF1 gene variants.
Neurol Sci
; 42(5): 2045-2057, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33443663
4.
Identification of two AMH gene variants in two unrelated patients with persistent Müllerian duct syndrome: one novel variant.
Gynecol Endocrinol
; 37(5): 476-479, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-33787423
5.
De Novo PORCN and ZIC2 Mutations in a Highly Consanguineous Family.
Int J Mol Sci
; 22(4)2021 Feb 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33557041
6.
Orodental, Facial and Clinical Features of Mutation-Positive Noonan Syndrome: A Monocentric Study.
J Clin Pediatr Dent
; 44(4): 262-267, 2020 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33167018
7.
Investigation of the most common clinical and imaging findings and the role of tubulin genes in the etiology of malformations of cortical development
Turk J Med Sci
; 50(6): 1573-1579, 2020 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-32718119
8.
Phenotypic spectrum of CHARGE syndrome based on clinical characteristics
Turk J Med Sci
; 48(5): 911-915, 2018 Oct 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-30384553
9.
Two Cases with Ring Chromosome 13 at either End of the Phenotypic Spectrum.
Cytogenet Genome Res
; 153(4): 175-180, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-29518772
10.
Brucellosis impairs endothelial functions in chronic symptomatic patients without overt cardiac involvement.
Turk Kardiyol Dern Ars
; 43(3): 242-9, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25905995
11.
Identification of a novel homozygous NR5A1 variant in a patient with a 46,XY disorders of sex development.
J Pediatr Endocrinol Metab
; 37(6): 575-579, 2024 Jun 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38650427
12.
A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall-Smith syndrome and Malan syndrome.
Int J Dev Neurosci
; 83(5): 479-485, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-37336770
13.
Genetic diagnosis of congenital hypopituitarism in Turkish patients by a target gene panel: novel pathogenic variants in GHRHR, GLI2, LHX4 and POU1F1 genes.
Arch Endocrinol Metab
; 68: e220254, 2023 Nov 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37948564
14.
Novel RPS6KA3 mutations cause Coffin-Lowry syndrome in two patients and concurrent compulsive eyebrow-pulling behavior in one of them.
Psychiatr Genet
; 32(5): 194-198, 2022 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-36125370
15.
Screening of non-syndromic early-onset child and adolescent obese patients in terms of LEP, LEPR, MC4R and POMC gene variants by next-generation sequencing.
J Pediatr Endocrinol Metab
; 35(8): 1041-1050, 2022 Aug 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-35801948
16.
A Neonatal Case of Infantile Malignant Osteopetrosis Presenting with Thrombocytopenia and Hypotonicity: A Novel Mutation in Chloride Voltage-Gated Channel 7 Gene.
Sisli Etfal Hastan Tip Bul
; 56(1): 161-165, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35515972
17.
A Null Mutation of TNFRSF11A Causes Dysosteosclerosis, Not Osteopetrosis.
Front Genet
; 13: 938814, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35812760
18.
Clinical and Genetic Characteristics of Patients with Common and Rare Types of Congenital Adrenal Hyperplasia: Novel Variants in STAR and CYP17A1.
Sisli Etfal Hastan Tip Bul
; 56(2): 291-298, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35990289
19.
Evaluation of Sporadic and Familial Cases with Craniofrontonasal Syndrome: A Wide Clinical Spectrum and Identification of a Novel EFNB1 Gene Mutation.
Mol Syndromol
; 12(5): 269-278, 2021 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-34602953
20.
Novel Ocular and Inner Ear Anomalies in a Patient with Myhre Syndrome.
Mol Syndromol
; 10(6): 339-343, 2020 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-32021609